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Page 1
Ketogenic diets in patients with inherited metabolic disorders.
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D. Scholl-Bürgi S, et al. Among authors: pichler k. J Inherit Metab Dis. 2015 Jul;38(4):765-73. doi: 10.1007/s10545-015-9872-2. Epub 2015 Jun 25. J Inherit Metab Dis. 2015. PMID: 26109259 Review.
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Among authors: pichler k. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation.
Michel M, Blatsios G, Scholl-Bürgi S, Entenmann A, Wernstedt A, Zschocke A, Pichler K, Höller A, Karall D. Michel M, et al. Among authors: pichler k. Klin Padiatr. 2015 Sep;227(5):296-8. doi: 10.1055/s-0035-1555921. Epub 2015 Aug 10. Klin Padiatr. 2015. PMID: 26259030 No abstract available.
Impact of the Fontan Operation on Organ Systems.
Michel M, Zlamy M, Entenmann A, Pichler K, Scholl-Bürgi S, Karall D, Geiger R, Salvador C, Niederwanger C, Ohuchi H. Michel M, et al. Among authors: pichler k. Cardiovasc Hematol Disord Drug Targets. 2019;19(3):205-214. doi: 10.2174/1871529X19666190211165124. Cardiovasc Hematol Disord Drug Targets. 2019. PMID: 30747084 Review.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: pichler k. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: pichler k. Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3. Genet Med. 2019. PMID: 30201961 Free article.
64 results